Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: RP2

Green List (high evidence)

PMID 9697692: In 6 patients with X-linked retinitis pigmentosa (RP2; 312600), Schwahn et al. (1998) identified nonsense, missense, and frameshift mutations, as well as 2 small deletions, in the RP2 gene.

PMID 8225316: Friedrich et al. (1993) found on reexamination of 7 obligate carrier females and 6 daughters of obligate carriers whose linkage relationships suggested that they carried the RP2 gene that the phenotype varied from totally normal eyes through mild retinal changes to complete loss of vision.

PMID 26143542 :In a study of 242 female carriers of X-linked RP, half of whom had RP2 or RP3, Comander et al. (2015) found that most carriers had mildly or moderately reduced visual function but rarely became legally blind.

Created: 9 May 2022, 7:56 a.m. | Last Modified: 9 May 2022, 7:56 a.m.

Panel Version: 0.124

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Retinitis pigmentosa 2 MIM#312600

Publications

• 9697692
• 10053026
• 10942419
• 11462235
• 12417528
• 8225316
• 26143542

Variants in this GENE are reported as part of current diagnostic practice